Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after trans-abdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99·1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2·0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2·3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.     

Human appropriation of net primary production as determinant of avifauna diversity in Austria

The relationship between land-use induced changes in production ecology and avifauna diversity was analysed using a GIS land cover dataset on a 0.25 km × 0.25 km grid covering Austria's national territory. Considering only aboveground processes, the “human appropriation of net primary production” (HANPP = potential NPP − NPP_t), actual NPP (NPP_act), harvest (NPP_h) and NPP_t (= NPP_act − harvest) were recalculated based on existing datasets. Elevation as well as indicators of land cover heterogeneity and landscape heterogeneity were also considered. Correlation analyses were performed between these potential determinants of avifauna diversity and breeding bird species richness data as well as the percentage of endangered breeding birds included in the Austrian red list. Four spatial scales—0.25 km × 0.25 km, 1 km × 1 km, 4 km × 4 km and 16 × 16 km, were analysed. It was shown that breeding bird species richness was more strongly correlated with production ecological indicators and elevation than with heterogeneity indicators. A residual analysis in which the effect of elevation (a proxy for climate) on species richness and its potential determinants was removed confirmed the importance of the availability of trophic energy (NPP) for bird diversity patterns. The results support the species-energy hypothesis, thus confirming the notion that HANPP could be a useful pressure indicator for biodiversity loss.     

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

Metabolomic analysis of the selection response of Drosophila melanogaster to environmental stress: are there links to gene expression and phenotypic traits?

We investigated the global metabolite response to artificial selection for tolerance to stressful conditions such as cold, heat, starvation, and desiccation, and for longevity in Drosophila melanogaster. Our findings were compared to data from other levels of biological organization, including gene expression, physiological traits, and organismal stress tolerance phenotype. Overall, we found that selection for environmental stress tolerance changes the metabolomic ¹H NMR fingerprint largely in a similar manner independent of the trait selected for, indicating that experimental evolution led to a general stress selection response at the metabolomic level. Integrative analyses across data sets showed little similarity when general correlations between selection effects at the level of the metabolome and gene expression were compared. This is likely due to the fact that the changes caused by these selection regimes were rather mild and/or that the dominating determinants for gene expression and metabolite levels were different. However, expression of a number of genes was correlated with the metabolite data. Many of the identified genes were general stress response genes that are down-regulated in response to selection for some of the stresses in this study. Overall, the results illustrate that selection markedly alters the metabolite profile and that the coupling between different levels of biological organization indeed is present though not very strong for stress selection at this level. The results highlight the extreme complexity of environmental stress adaptation and the difficulty of extrapolating and interpreting responses across levels of biological organization.     

Muskox status,recent variation,and uncertain future

Ambio - Muskoxen (Ovibos moschatus) are an integral component of Arctic biodiversity. Given low genetic diversity, their ability to respond to future and rapid Arctic change is unknown, although...     

Circumpolar status of Arctic ptarmigan: Population dynamics and trends

Rock ptarmigan (Lagopus muta) and willow ptarmigan (L. lagopus) are Arctic birds with a circumpolar distribution but there is limited knowledge about their status and trends across their circumpolar distribution. Here, we compiled information from 90 ptarmigan study sites from 7 Arctic countries, where almost half of the sites are still monitored. Rock ptarmigan showed an overall negative trend on Iceland and Greenland, while Svalbard and Newfoundland had positive trends, and no significant trends in Alaska. For willow ptarmigan, there was a negative trend in mid-Sweden and eastern Russia, while northern Fennoscandia, North America and Newfoundland had no significant trends. Both species displayed some periods with population cycles (short 3–6 years and long 9–12 years), but cyclicity changed through time for both species. We propose that simple, cost-efficient systematic surveys that capture the main feature of ptarmigan population dynamics can form the basis for citizen science efforts in order to fill knowledge gaps for the many regions that lack systematic ptarmigan monitoring programs.

     

Degradation of the herbicide dichlobenil and its metabolite BAM in soils and subsurface sediments

The worldwide used herbicide dichlobenil (2,6-dichlorobenzonitrile) has resulted in widespread presence of its metabolite 2,6-dichlorobenzamide (BAM) in surface water and groundwater. To evaluate the potential for natural attenuation of this BAM pollution in groundwater, we studied the degradation of BAM and dichlobenil in 16 samples of clayey till, unconsolidated sand and limestone, including sediments from both oxidized and reduced conditions. The degradation of dichlobenil occurred primarily in the upper few meters below surface, although dichlobenil was strongly sorbed to these sediments. However, the degradation of dichlobenil to BAM could not be correlated to either sorption, water chemistry, composition of soils or sediments. Degradation of dichlobenil to BAM was limited (<2% degraded) in the deeper unsaturated zones, and no degradation was observed in aquifer sediments. This illustrates, that dichlobenil transported to aquifers does not contribute to the BAM-contamination in aquifers. A small, but significant degradation of BAM was observed in the upper part of the unsaturated zones in sandy sediments, but no degradation was observed in the clayey till sediment or in the deeper unsaturated zones. The insignificant degradation of BAM in aquifer systems shows that BAM pollution detected in aquifers will appear for a long time; and consequently the potential for natural attenuation of BAM in aquifer systems is limited.     

Lignoid chemical defenses in the freshwater macrophyte Saururus cernuus

Summary. Chemical defense against herbivores has rarely been investigated for freshwater plants, possibly due to the common misconception that herbivory on aquatic macrophytes is low and would not select for chemical defenses. In previous work, the freshwater angiosperm Saururus cernuus was shown to be a low preference food for omnivorous crayfish despite its high nutrient value and relatively soft texture. We used feeding by the crayfish Procambarus clarkii to guide fractionation of the deterrent lipid-soluble extract of this plant, leading to the identification of seven deterrent lignoid metabolites, (–)-licarin A, (+)-saucernetin, (–)-dihydroguaiaretic acid, (–)-sauriols A and B, (–)-saucerneol, and (–)-saucerneol methyl ether. Lignans have been implicated in terrestrial plant chemical defenses as insect growth inhibitors, insect toxins, nematocides, antibacterial, and antifungal agents. However, these activities have rarely been demonstrated using ecologically relevant methodologies in terrestrial systems, and never before in freshwater systems. The widespread nature of lignans amongst very distantly related plants, along with their rich diversity of molecular structure, suggests that they could play a large role in mediating plant-herbivore interactions. In addition to the lignoid compounds we identified, there were other compounds present in low concentration or unstable compounds that were deterrent, that did not appear to be lignans, but that we were unable to identify. This plant thus appears to be defended by a complex mixture of natural products. Received 6 June 2000; revised 23 August 2000; accepted 2 September 2000